A study from Santa Lucía details the influence of genes in kidney treatments

A study by the Nephrology specialist Rosa Alarcón, from the Santa Lucía Hospital, has revealed how different genetic components influence the response to hemodialysis treatments received by kidney patients. Among her conclusions, she demonstrates for the first time that there are two genetic variants that can cause patients to have a better therapeutic response with the drug Cinacacet, which many take to avoid complications of their pathology.

This is a doctoral thesis presented this week by Alarcó, who is receiving a doctorate from the Catholic University of Murcia (UCAM). The research was led by Pablo Conesa Zamora, head of the Molecular Pathology and Pharmacogenetics Research Group of the Pathology Service of the Santa Lucía General University Hospital in Cartagena, and postdoctoral researcher Ginés Luengo Gil.

Those affected by kidney diseases who are treated with hemodialysis have the most common complication of elevated parathormone levels. This increase generates cardiovascular risks and possible bone fractures.

To treat this complication, the drug Cinacalcet and vitamin D supplements are commonly used, but, until now, “the genetic component was not taken into account as a condition to restore normal levels of parathormone, a marker protein for kidney damage suffered these patients”, explained the already doctor.

After analyzing the data, he demonstrated, for the first time, the existence of two genetic variants in the vitamin D binding protein (VDBP) gene. This implies a lower response to treatment with Cinacalcet.

Vitamin D

From the point of view of pharmacogenetics, “it is a finding of special relevance,” said Alarcón, because from now on it will be possible to better adjust the doses and supplementation of vitamin D in patients who carry the aforementioned genetic factors. To reach these conclusions, Alarcón evaluated data relating to 158 people.